Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5393187010 | Coagulation factor XII-associated cold autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5393188017 | FACAS - F12-associated cold autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5393189013 | Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5393190016 | F12-associated cold autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5393191017 | A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5393192012 | A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Systemic disease affecting skin (disorder) | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Is a | Urticaria caused by cold | true | Inferred relationship | Some | ||
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Clinical course | Recurrent | true | Inferred relationship | Some | 4 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Interprets | Body temperature (observable entity) | true | Inferred relationship | Some | 3 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Associated morphology | Urticaria | true | Inferred relationship | Some | 2 | |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) | Causative agent | Low temperature | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR